Genetic rare disease prevention and control: Family-based screening and reproductive interventions in Changsha.

ABSTRACT: Rare diseases pose a significant public health challenge, particularly in underserved regions such as China, where genomic diagnostic services and post-diagnosis management remain limited. This study assessed the effectiveness of a rare disease screening program in Changsha, China, which enrolled 85,391 couples between January 2022 and June 2023. Among these participants were 1,414 suspected high-risk couples undergoing genetic testing, with 562 found to be at high risk of having a child with a rare disease, yielding a positive rate of 39.75%. Reproductive interventions were implemented for 319 families, successfully preventing rare disease-affected births in 141 cases. Diagnostic findings informed reproductive decision-making in 25.09% of cases and altered fertility plans in 32.74%. Machi

SUBMITTER: Lin G 

PROVIDER: S-EPMC12424409 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature